RECORDED: Thursday 7 May 2026
SUMMARY KEYWORDS: Heritable connective tissue disorders, Ehlers-Danlos Syndrome, hypermobility, vascular EDS, chronic illness, school connection, early diagnosis, fatigue, dysautonomia, genetic testing, educational support, mental health, advocacy, awareness, medical plans.
SPEAKERS: Megan Gilmour, Janna Linke, Holley Jones
Megan Gilmour 00:00
Welcome to our weekly webcast a place to zero in on the interplay between health and education and to amplify the voices of those supporting school students to navigate their educational journeys despite complex health challenges. And today on Live & Learn we have Janna and Holley.
Janna Linke is healthcare professional, medical communication specialist and founding board director and clinical education lead at Connective Tissue Disorders Network Australia (CTDNA), living with hypermobile Ehlers-Danlos syndrome herself, she brings both professional and lived experience to advocacy and education. Passionate about improving recognition and support for young people with EDS, Janna works to advance awareness care pathways and systems change for Australians with heritable connective tissue disorders.
Holley Jones is a kindergarten teacher in Victoria and ambassador for Connective Tissue Disorders Network Australia. She has lived experience as a carer to families living with vascular Ehlers-Danlos syndrome (vEDS). Holley brings both lived and professional insights into the impact of chronic illness on education. Holley is passionate about improving awareness of heritable connective tissue disorders and supporting flexible, inclusive approaches that help children and young people to stay connected to learning, despite disrupted schooling.
Welcome, Janna and Holley, we’re excited to have you on Live & Learn today.
Janna Linke 02:22
Hi, Megan,
Holley Jones 02:23
Thank you.
Megan Gilmour 02:24
So today we’re here to talk about supporting school connections for students with complex medical and or mental health conditions. Let’s jump into our very first question. So, tell us how heritable connective tissue disorders (HCTDs) impact kids and why it’s something every Australian needs to know and care about.
Janna Linke 02:53
But I’ll go first on this one. I think heritable connective tissue disorders can affect kids in so many ways. It’s really varied. It’s often invisible, it’s often misunderstood, it’s often dismissed, and despite having profound impacts on kids, health and education and their development and family life, all of this still happens, this dismissal and misunderstood and delays in diagnosis.
So, the conditions we’re talking about today, known collectively as heritable connective tissue disorders, is a group of dozens of conditions that includes Ehlers-Danlos syndrome, hypermobility spectrum disorder, Marfan and Loeys-Dietz syndrome, for example.
The impacts can be multi system, so they can affect pretty much any organ system throughout the body, that’s because there’s connective tissue right throughout the body, depending on the genomic variation. You know, it can be impacting collagen or extracellular matrix pathways.
Connective tissue is, as I said, throughout the body. But the impacts on kids are more than just hypermobility and flexibility. They really are system wide.
Every Australian should know and care about heritable connective tissue disorders like EDS and HSD, especially during May, which is EDS and HSD Awareness Month, because it’s likely we all know somebody with one of these conditions.
They are rare, but they can also be common. There’s a huge range in prevalence. But following this, it’s because the impacts expand far beyond just the physical. As you say, it’s the mental health impacts also of living with complex chronic conditions.
And understanding that, for all Australians is key, because identifying invisible illness and recognising that it may not be invisible, it’s just that you haven’t known what you’re looking for, or being more open to understanding invisible illnesses is key for all Australians.
Megan Gilmour 05:08
That’s a great opening and scene setting for us. So, many people probably assume things about heritable connective tissue disorders. What’s the million-dollar question that you get from parents or loved ones when their child experiences or is diagnosed with HCTDs?
Janna Linke 05:27
I think, from my perspective as a lived experience leader and Holley can add to this, I’m sure, but it’s that the invisibleness of it at times, people think it can’t be that bad. I think that’s a huge assumption, yes, that, you know, you can’t see the cardiovascular impacts, you can’t see the gastrointestinal impacts, but they are there, and they’re very real. You know, you can’t see when a child’s dizzy or has a racing heart from dysautonomia, but it’s there.
So, I think it’s that outward appearance of invisibility at times that is a big misunderstanding and leads to the assumption that it can’t be all that bad.
Megan Gilmour 06:09
So invisible illness there, and Holley, do you have anything to add to that? Or would you like to add to that on the million-dollar question?
Holley Jones 06:18
Yes, I think because it is not very common, it is common, but then it’s not for, in particular, my children and their dad, they have a rare subtype of Ehlers-Danlos Syndrome called vascular Ehlers-Danlos Syndrome or also known as vEDS.
And I suppose the invisible side of things that comes with that is fatigue. They will be at school, and they’ll say they’re tired, they’ve gone for a run, they’re fatigued. They need to lie down. And I suppose when a child says, I’m tired, I don’t want to do my schoolwork, half the time, teachers will just put that to ‘Oh, they just don’t want to. They’re just being a typical child who’s tired’, but in reality, they’re absolutely exhausted. They can’t control that fatigue; it’s in their body.
Megan Gilmour 07:08
Yes, so these invisible symptoms or effects that are going on also have consequences for children and young people, and those consequences might not be understood or even believed.
Janna Linke 07:25
I think for the million-dollar question, one that I come up with is, what does it mean for my child’s future, or, you know, how will they be impacted in the long term? And I think the answer to that is, you don’t really know. You know it is an unpredictable disease course, but of course, that’s an answer that most parents would like to have.
Megan Gilmour 07:48
So that leads to really us, for us to look at this next question, which is, what’s the most important thing you want them to know?
Janna Linke 07:57
Did you want to jump in Holley, or shall I go first?
Holley Jones 08:00
I suppose I’ll jump in. I suppose, for education settings to know is they need more time. They need more understanding and patience. Because children living with these connective tissue disorders often do fatigue. They often have underlying issues you don’t know about or can’t see. And, you know, it’s trying to adapt to what they need.
If they’re away from school for long periods of time. It’s reaching out and saying, hey, what can we do to help? Or how can we change learning to suit your needs? Or what can we provide you with seeing you’re at home and you can’t be at school with everyone else?
Adapting, even, for instance, physical education. My children, their PE teacher adjusts their curriculum and their planning to suit the boys. So, in school sports, for instance, with pole vault jumping over the bar, they usually use a metal bar to do that high jump, for instance.
With Hunter and Isaac, they are at risk if they hit that bar, they can have internal bleeding. They could have dissection in their body. They’re at risk of fatal and life-threatening medical episodes. So, it’s adjusting that for them by putting up a foam bar or giving them something else to do.
I suppose it’s also knowing the signs of what could be a medical episode. It could be as simple as a headache. It could be as simple as a sore tummy. A lot of the time with these medical episodes, it sounds like just a child complaining, saying I’ve got a headache. I need to lay down. I don’t feel well. And if that is ignored, that also could be fatal for that, for that child.
Megan Gilmour 09:56
Yes, and knowing all that, then what? If parents come with this million-dollar question, what do you want parents to know? What’s the most important thing?
Holley Jones 10:12
The most important thing is to advocate for your children. Don’t give up. Push the school. I’m one of those parents that will go in there and say, ‘No, I’m not happy about this’, or, you know, ‘we need to work on this’. I work with the school, I say, you know, ‘if my child is not feeling well, call me – if they are tired and can’t participate, call me’.
I feel like being flexible – I mean, I can because I am home. I know a lot of people do work; I don’t work. So, I mean, I am more flexible with being able to collect them.
But I think it’s just for other parents who are going through this. It’s just, advocate for your child. Don’t give up. The school can adapt. They can change things for your child. You’re not being pushy; you’re not being annoying. You just need to really just say ‘no, that this is my life and I need support’.
Megan Gilmour 11:09
Yes, thank you for that. And Janna, do you want to add to that? You know, backing onto the million-dollar question, what do you want parents or loved ones to know when their child is diagnosed?
Janna Linke 11:20
I think really, you know, supporting what Holley said, it’s that a diagnosis is really important, and an early diagnosis is important. So if you think that your child is living with a condition like hypermobile Ehlers-Danlos or Ehlers-Danlos syndrome, or any of the syndromic presentations that occur in young children that require evaluation, it’s really important to advocate to get that because, like Holley has said, living with vascular Ehlers-Danlos syndrome or Loeys-Dietz syndrome, or Marfan syndrome, they are conditions that do come with life limiting impacts.
The consequences of some of the manifestations and complications really do need to be – the diagnosis in early childhood is really imperative to ensure that the surveillance and the monitoring that is needed is happening.
So, I think supporting what Holley has said about advocating, it’s also advocating for a diagnosis as well, yes, or at least a very robust and full evaluation by somebody that understands these conditions.
Megan Gilmour 12:29
Sorry to interrupt you there. Yes, I hear in that, don’t give up. Make sure that the young person is at the centre of the conversation,
Janna Linke 12:38
Yes. And early diagnosis really does improve quality of life as well, in the long term, as well, because it allows for all of the interventions that, you know, can be enacted and put in place in early childhood. There’s a lot of value in that for quality-of-life decades down the line.
Megan Gilmour 12:57
Yes, indeed. So, if you’re willing to answer this question, I think we’ve got a bit of a hint from both of you as to why, but we’d love to know what brought you into the world of heritable connective tissue disorders.
Janna Linke 13:16
Okay, I’ll go first. So, I mean, it’s a very, very long story, so I’ll give the very abridged version. I do have hypermobile Ehlers-Danlos syndrome myself. I was diagnosed after two very difficult pregnancies. I have had symptoms my entire life from a really young age, you know, with my first partial dislocation at around age four, and a lifetime of dysautonomia and chronic migraines and chronic pain and gastrointestinal issues from early childhood, which I managed pretty well, you know, just seeing my independent specialist, you know, neurologist, GP, cardiologist.
I had this team, but it wasn’t until I had my two pregnancies very close together. Where my body really decided that it did not like that added stress. So throughout that period, after a lot of pretty severe pain, where I, my mobility was severely reduced, I was diagnosed with generalised hypermobility disorder, and from that, then Ehlers-Danlos syndrome.
So that’s kind of what brought me to this work. I think having a background in healthcare really spurred me on to setting up CTDNA because I saw the inequity of access to care that exists even in a country like Australia with universal healthcare, living with rare and complex chronic conditions.
The support and the network and the way the system works, it’s not always set up to deal with that kind of clinical complexity, and there are a lot of people that aren’t getting to the care they need because of barriers. So that led to me wanting to set up CTDNA and start advocating to try and improve care for people with these conditions.
Megan Gilmour 15:05
Thank you for sharing that. And you know, thanks for doing the work too. Not everybody can do that, so
Janna Linke 15:14
I also have two boys who have varying degrees of hypermobility as well. And obviously, my diagnosis means that they are getting all the early interventions that they need, which not everybody’s able to.
Megan Gilmour 15:34
Two different trajectories and all that comes with it. And Holley, how about you? Would you like to let us into what brought you into the world of HCTDs?
Holley Jones 15:46
Yes. So, our story began not that long ago. Back in 2018 my husband was 26 years old, fit, healthy, running every night, playing footy. Went through his life, bruising, hurting himself, lots of injuries in football, but nothing ever picked up, lots of joint pain, no one ever kind of picked up what was going on.
And he got to, when he was 26 years old, when he had an aortic dissection and collapsed, and he couldn’t talk to me. He was just spaced out. When he came around to it, he was telling me he had pain in his chest, he couldn’t breathe, he couldn’t see and it was really unusual. So, he ended up going to hospital and had no answers. They couldn’t give him an answer why this had happened to his body.
And then six weeks later, it happened again. Another part of his body dissected and tore, and he had the same thing, heart attacks, sort of similar symptoms and dizziness, and same thing, collapsing on the ground. I’m calling another ambulance, and we’re saying we know we need answers.
So, this went on for about a year of repeated aortic and arterial dissection in his body.
Megan Gilmour 17:15
Can you just tell us – for those who don’t know, what does a dissection mean?
Holley Jones 17:19
So, a dissection is, it is where – how do I explain this? What’s the best way to explain this?
Janna Linke 17:31
So, it’s a tear in an artery, and usually a main artery, so a heart artery, or vessels in the neck and also, commonly experience is it can also happen in renal arteries, which is sort of abdominal arteries, so basically, any arteries throughout your body, it’s a tearing from sheer force.
Holley Jones 17:56
It basically just like tissue paper. It’s kind of like solid and then he’ll suffer a dissection where it just tears it just rips in half.
Megan Gilmour 18:05
For no reason, well it’s heritable, that’s the reason. But it’s not from doing anything.
Janna Linke 18:11
It’s faulty connective tissue. The integrity isn’t there.
Megan Gilmour 18:17
I suppose across years, that propensity for that to happen is greater as well?
Holley Jones 18:24
yes, as they get older
Janna Linke 18:27
yes, it can occur sort of from teenage years on.
Megan Gilmour 18:35
It also really sheds, you know, we can say things, but when these things are described, it really gives you know the gravity of that.
Holley Jones 18:46
Yes, so I guess for Brad, he suffered this for about a year, and it wasn’t until the Royal Melbourne decided to do genetic testing, and they kind of had an idea of he would have some sort of Ehlers-Danlos, because of his symptoms and because of his strong family history.
Brad’s mum passed away from dissection at 44 his aunty, her sister also passed away at the age of 37 after giving birth. There was kind of a pattern, and so they went, we need to do genetic testing.
Megan Gilmour 19:21
So, nobody had pieced together that these were unusual things in one family?
Holley Jones 19:26
No. No one had figured it out until Brad came along and had lived through this.
Megan Gilmour 19:32
He started saying, ‘Oh, now I think about it. This happened to my mum. Well, hang on a sec. This happened’?
Holley Jones 19:38
To his sister. And yes, it kind of put the pieces together, and they did that genetic testing, and it came back with vascular Ehlers-Danlos syndrome, which is one of the rarer subtypes of EDs, and is one of the most fatal types of EDs, because they are at risk of spontaneous arterial and organ rupture at any time throughout their life.
Megan Gilmour 20:03
Very stressful,
Holley Jones 20:04
Very stressful. Then going well, we have children – we had already had
Megan Gilmour 20:11
At that point, you already had children as well.
Holley Jones 20:13
Yes, my sons were two and two months. Actually, I was pregnant already while he was having genetic testing. So that then led us to the boys being tested at two years and two months old at the Royal Children’s Hospital. We had a referral put in just to say their dad was positive. Let’s get them tested.
I also have a daughter who is seven months old and she’s negative. She doesn’t have vEDS, yes, and so it’s just one of those things that kind of opened up a big can of worms. It changed everything for us.
Megan Gilmour 20:50
Well, thank you so much for being willing to share that and also shed a light into what this can mean for families as well, as we’ll get into that a little bit more.
Knowing all that you know, what’s your biggest hope for kids with heritable connective tissue disorders and their families and loved ones when navigating this?
Holley Jones 21:17
I think it’s; I hope they have a good, supportive network, because it can feel very lonely at times. And I hope that they can get their diagnosis, because sometimes that can also be really hard to get, because sometimes you aren’t listened to.
It was only, my children got theirs so young because of their dad, whereas other people go through their life and not know until they experience something.
Megan Gilmour 21:42
Until you’re 26
Holley Jones 21:43
Yes, exactly, exactly.
Megan Gilmour 21:48
Janna, what about you? What’s your biggest hope?
Janna Linke 21:50
Quite similar. It’s just that younger generations, the next generation’s kids now, won’t have to fight so hard for a diagnosis. You know that people our age are also aware of it and fighting for diagnosis for our kids, where a generation ago, there was even less knowledge and awareness, so that wasn’t happening.
It’s just that through increased knowledge and awareness and clinician understanding, we can get the diagnosis earlier, we can get the surveillance, we can get the early interventions. It’s just the care will be improved. That’s my biggest hope.
Megan Gilmour 22:25
And is it the wrong thing for me to say, is there a hope of a cure?
Holley Jones 22:34
We hope!
Janna Linke 22:35
We hope, yes, I mean, I hope maybe there’s treatments, you know, maybe some gene therapies might come. But you know, even that’s a long-term hope.
Megan Gilmour 22:51
Well, what are some of the common and perhaps frustrating public misconceptions then about HCTDs and have you seen that have an impact on families and kids?
Janna Linke 23:03
I think the biggest,
Megan Gilmour 23:04
We’ve covered some of it,
Janna Linke 23:05
We’ve covered some of it, yes, and I mean, the assumption and the misconceptions kind of tie into each other, I feel, in a lot of ways. I think the biggest misconception is that it’s just being bendy, it’s just having hypermobility, and that it’s not, you know.
Hypermobility is ultimately, for some subtypes, it is a very, very core component, you know, but for a lot of the rarest subtypes, there are other key manifestations and diagnostic criteria that aren’t to do with hypermobility. And the impacts go beyond just joints.
Megan Gilmour 23:45
Holley, any frustrations there?
Holley Jones 23:50
Yes, most definitely. The amount of times that medical professionals have said, ‘Oh yes, I know about Ehlers-Danlos’, and I have to say, ‘but do you know about vascular Ehlers-Danlos in particular’, because they are different. And also, as Janna had already said, that a lot of the time, they say, oh yes, it means you’ve got bendy joints and you’re very flexible. And it’s not just that. There are so many components to it.
There can be layers upon layers that children deal with. And it can be down to their learning. It can be their muscles. It’s fine motor, it’s gross motor. There’re so many different things that go with having a connective tissue disorder.
Megan Gilmour 24:37
Keeping an open mind and being curious and scientifically investigative sounds to be the call to action here, given what you’ve said.
Janna Linke 24:50
Clinical curiosity.
Megan Gilmour 24:55
Yes, instead of just sort of shoehorning or dismissing.
So, we’ve heard some of the detail. But how many Australian children and youth do we think are living with HCTDs right now – that’s heritable connective tissue disorders? And is that data likely to be accurate, if we have it?
Janna Linke 25:21
Look, the data we have is pretty much not nonexistent, but working off Australian Bureau of Statistics population data and what we know about prevalence data globally, we can extrapolate some loose figures, but it’s good to remember as well, up to 20% of the general population do have some hypermobility, but it may not be syndromic, it may not be symptomatic.
But then, when we look at prevalence statistics for hypermobility, hypermobility spectrum disorder and hypermobile Ehler Danlos syndrome, which has a prevalence of about one in 500, using the population data that we know, there’s about 5 million kids under 18, I think, so there’s probably about 10,000 kids living with HSD and hypermobile Ehlers-Danlos.
Looking at vascular Ehlers-Danlos syndrome, which is the condition that Holley’s children and husband live with, which has a prevalence of somewhere between one in 50,000 and one in 200,000, we might be looking at about 100 – 25 to 100 kids living with that condition in Australia.
And then one of the ultra-rare types of Ehlers-Danlos syndrome has a prevalence of one in a million. So, we’re looking at only about six, five or six of those.
So, there’s around 10,000 the bulk majority of them are hyper mobile subtype and hypermobility spectrum disorder, so 10,000 before we’re looking at Loeys-Dietz syndrome, Marfan, Stickler syndrome, you know, and the other dozens and dozens of them. So, there’s a lot.
Megan Gilmour 27:06
That’s exactly right. We’re talking about, maybe singularly, people might say that’s not a lot of people, but when looked at collectively, it’s a lot of people. 10,000 or two doesn’t matter really, the key points remain.
Janna Linke 27:27
Yes
Megan Gilmour 27:30
This next question, I feel like we’ve already covered it, but let’s just go back to it to see if there’s something else, we need to pick up, and that’s, is there a risk of delayed diagnosis, or are most cases picked up easily?
So, the question I would like to ask there on the back of what you’ve both said is, are there differences in – is this a gendered issue as well? Is the diagnosis higher in boys or girls? Is it about the same? Is the diagnosis of either boys or girls, more or less, that’s something you have some observations on?
Janna Linke 28:16
Most of the rare types occur equally in boys and girls. There’s no sort of stark difference there. The difference probably comes in with the hypermobile subtype, but the evidence isn’t really clear whether it’s that potentially girls and females and people assigned female at birth, they have a higher symptom burden, and it could be due to the hormonal fluctuations. So perhaps more girls are being diagnosed because their symptom burden is driving that.
But there are really, really stark delays in diagnosis. So, some evidence that came out last year put the diagnostic odyssey for HSD at 17 years and for hypermobile Ehlers-Danlos at 22 years. So that’s the average time to diagnosis for those two conditions.
So really going off that kids are not being diagnosed until they’re adults. And then looking at the rarer subtypes, like vascular EDS and, just looking at them from the lens of being rare diseases, the diagnostic delay is typically probably between five and eight years still.
So, there’s a long way to go in improving when diagnosis occurs, I think. It is a big problem.
Megan Gilmour 29:41
It puts it into sharp focus, doesn’t it, the ages that you’re stating there when it’s heritable, meaning you arrive at birth – conception with it,
Janna Linke 29:53
Yes, that’s right, yes.
Megan Gilmour 29:56
So, from zero to 25-26 or 21 that’s decades
Janna Linke 30:04
Yes. And I think some of the rarer types where there is an established diagnosis already, as in the case with Holley’s husband and then the children being diagnosed, you’ve always been diagnosed a lot earlier, that’s a great, good outcome.
Obviously, Brad’s diagnosis came too late, especially given the family history that was there. But I think as we have advances in genetic testing, the cost is coming down, it’s more available. Hopefully those cases that do have the red flags for the rare types that can be diagnosed via genetic testing, those gaps will close, I hope.
Megan Gilmour 30:41
Yes. Is there anything else you’d like to add to the kinds of complications that kids with heritable connective tissue disorders face? We’ve talked about some of those.
Janna Linke 30:54
Yes. So I think the gastrointestinal issues can be huge for kids with connective tissue disorders, you know, pretty severe and chronic abdominal pain, disordered eating, there’s a high co-occurrence of neurodiversity, so then we’ve also got sensory sensitivities and differences in that respect as well that feeds into, you know, schooling and capacity to manage pain and fatigue, like Holley said, which is a huge component.
The pain and fatigue can be massive as well, and a lot of that comes from the hypermobile joints fatiguing more easily because it takes a lot more effort to, you know, go through your daily movements, than it does if your joints weren’t going to the end of range all the time.
Low muscle tone can also play a part in it for certain types of connective tissue disorders.
Megan Gilmour 31:54
So, we’ve got even the individual differences, even in the same subtype as well?
Janna Linke 32:03
Yes, each subtype of EDs does present quite differently, yes
Megan Gilmour 32:08
But even within that, within
Janna Linke 32:12
Yes, the comorbidities, yes, and it can fluctuate as well. You know, you could have chronic GI issues for two years, and then all of a sudden, they might improve. And nobody really knows why, you know, like, yes.
There’s still a lot of uncertainty in symptoms and in trajectory of symptoms and being able to understand why certain symptoms occur when they do. There is some evidence around neuro immune kind of implications.
So, we do see that kids, and adults as well, with connective heritable connective tissue disorders can experience more post viral fatigue and post viral complications.
So, definitely, it’s really full on, I think, in terms of what can occur and the manifestations. Have I missed anything Holley – I’m sure I have.
Megan Gilmour 33:04
I was going to say one of the major complications, and the cause of complications is the late diagnosis that Holley, do you want to add what’s add to what’s been said there by Janna?
Holley Jones 33:18
Yes, I feel like, with the post viral sort of stuff, it’s so true. And I feel like my children, in particular, with their type of Ehlers-Danlos, they just get sick so easy, and it takes so much longer to recover, and the symptoms are just, I feel, so full on that it takes them weeks to not have that fatigue.
And you know, one year they might have nothing, and then the next year they’re having other problems in their body. It just pops out of nowhere. And it’s so different every year, like Janna was saying, you might go two years with one problem, and then the next year you’ve got something else.
So, that makes it unpredictable, which makes it really hard for school, because they are missing school and they’re trying to keep up, and it’s not their fault.
Janna Linke 34:18
I think a big part of fatigue also can be dysautonomia as well, which is really tricky to diagnose and manage in children. So, you know, there are so many layers to what’s going on in a little
Megan Gilmour 34:31
And for those who don’t, don’t know the term dysautonomia do you want to give us a quick overview?
Janna Linke 34:36
So autonomic nervous system dysfunction? So, it’s basically your body’s ability to manage and reach a homeostasis for the things that happen without you really even realising. So, it’s respiration, breathing rate, it’s blood pressure control, it’s heart rate, it’s temperature regulation. Again, it’s a very big umbrella term for quite a few conditions,
Megan Gilmour 35:05
Yes, I know it, and, again, all the things that people might take for granted, they’re the things that are being affected without – not necessarily an external pressure or reason?
Janna Linke 35:22
Yes, so it’s dysregulation to those systems. And I think for children particularly, it’s also really hard to describe the feelings of those things occurring in their bodies until they’re a little bit older, because they don’t have the words to explain how they’re feeling that dysregulation. Yes.
Megan Gilmour 35:40
And, and so Holley on the back of all of that, and we asked about complications. What about the siblings? You mentioned that your daughter has not inherited this gene or these genes.
And also thinking about the mental health issues that go alongside as a complication, if we want to call it that. Do you want to speak to how siblings and even peers of kids with heritable connective tissue disorders are impacted? And what should families be across?
Holley Jones 36:25
I feel like siblings – this is something that as the boys and my daughter get older, and they kind of – so Hunter and Isaac are very aware that they have vascular Ehlers-Danlos, and Isla doesn’t, and we have made it very clear that it doesn’t matter that you do and she doesn’t.
We’ve made it to protect their mental health too, we don’t want to think it’s a bad thing. We don’t want to think it’s like the end of the world. We want them to understand that they do have this condition, but it doesn’t mean you’re any different to your sibling.
And both my boys are also neuro divergent. It’s the same thing. I don’t make a big deal about them being autistic. They know it, they’re very aware of that, but we don’t make it like it’s a big deal. This is just who you are.
And I think for the boys too, it’s hard for them and their peers, because they want to play football. They want to be rough, especially my youngest son, Isaac. He is a rough and tumble, jump, climb, and I’m like, ‘mate, you need to be careful’. He gets covered in bruises so easily, and the school’s always ringing me saying, ‘Isaac’s falling off the playground. He’s hit his head. He’s okay, but what do you want us to do?’
I think for their peers, it’s one of those things that they will as they grow up, start noticing, and I think it’s really important to have open, honest conversations with your children, explain what they have, what happens to their body and why, but also link in with services like a psychologist to kind of process that, because it can come with a little bit of grief.
And I, I know, when we were first told about our children having it. We, the grief was very intense, and it was very upsetting and very hard. I’m like, ‘what do you mean my children can’t go on roller coasters and have a normal life playing football with their friends? And what do you mean they need to be careful in a bouncy castle, what do you mean?’ And they had said to me –
Megan Gilmour 38:32
And how are you even going to manage that?
Holley Jones 38:34
Yes, and how am I going to stop them from playing with their friends? So, it’s kind of, I guess, just being honest with your children and trying to guide them and to do other things you know, that are safe for them, and also being honest with their friends.
Explain, this is what they have, and we need to keep them safe. I’ve been into my son’s school multiple times to sit in the classroom and say, ‘hey, you know I’m Hunter, or Isaac’s Mom, this is what they have. This is how we keep them safe at school’.
Because there’s been number of times where children just want to play, and they will just jump on them or knock them to the ground or play tag. And you know, it’s the shoving and the pushing that happens during play. And then I’ve kind of got to explain that to children. And it’s so hard, they’re so little. They’re like ‘What do you mean, I can’t play those games, or I need to change the way I do these things?’
Megan Gilmour 39:31
Yes, that’s a really interesting one. Then I think Janna, in your case, you said two of your boys. Is that two out of two?
Janna Linke 39:44
Yes, so one of them has an HSD diagnosis and just being monitored. So, I’ve just been through extensive genetic testing, as I did have a dissection in October myself. But I don’t have one of the known variants. I’ve got a variant of unknown significance, so I’m sort of in a bit of no man’s land in that respect.
But, yes, my kids, I suppose, they’re still quite active, still participate in most things, because we haven’t got that vEDS gene, we haven’t been told we should avoid all of those high-risk things, and I think that’s a really hard thing to navigate. Holley would definitely empathise with that. You know, we have concerns around activity, especially, probably more so since my dissection. But again, it’s really tricky to navigate.
I think siblings, it can be particularly hard as well, if one sibling has higher medical needs than the other child, it can appear to one sibling like more of the parents’ time is being diverted to that child, and you’re investing more time and energy. And then the other child can feel a bit sort of – not neglected – but they’re aware of that time and energy and that there’s this worry, I suppose, around trying to navigate certain aspects of the conditions.
And yes, and I think again, it’s the invisibility as well, for other siblings as well. It’s hard for kids to understand something they can’t see, like you were saying, Holley going to the school and talking to the students. Because it’s tricky.
Megan Gilmour 41:41
It’s hard enough for adults it sounds, let alone other kids. But then, I don’t know, maybe the kids get it and accept it more easily once they’re told. I don’t know.
Holley Jones 41:53
Yes, I feel like the children at my son’s school, they’re great. Once they’re told, they’re like, ‘Oh, yep, we need to keep them safe’. And they’ve come to me before in the morning in the playground, and they’re like, ‘we need to be gentle with Isaac, because he bruises really easily and he can get hurt, so we have to keep him safe at school’. And I’m like ‘that’s right!’.
Megan Gilmour 42:10
Yes, that’s what I imagined.
Holley Jones 42:13
Yes, they’ll take it on board.
Holley Jones 42:16
Next Friday is Reds for vEDS day, and that is a campaign that’s spreading awareness for vascular Ehlers-Danlos syndrome. And the school, all the children know, they put on their red and they do their walk at school to support and raise awareness for it. So, they’re open.
Megan Gilmour 42:35
Yes, and I guess that openness can apply to any medical or mental health condition that somebody’s willing to disclose.
And the more that happens – and I’m not making any judgments about disclosure or not, that’s an individual choice – but I guess it becomes more normalised that different bodies, different minds, different backgrounds, and that diversity, you know, different brains.
We’re the same in our diversity, all the different things that people are coming into a classroom with, including teachers, I guess. There’ll be teachers with HCTDs.
Holley Jones 43:33
Most definitely and you’d think they would understand then, really well,
Megan Gilmour 43:38
Yes, well, they might not be paired up, and that’s probably the issue [laughter]
Janna Linke 43:42
They might not be diagnosed [laughter]
Megan Gilmour 43:45
So, what is the current population? Do we think it’s 10,000, the current population of school age children
Janna Linke 43:57
Up to yes, around, potentially. You know, obviously, re-emphasising that the bulk of it is the hyper mobile subtype.
Megan Gilmour 44:08
Yes, and not diminishing that, either,
Janna Linke 44:10
Not diminishing it, no, in any way. But also, wanting to point that out, that it spans common, chronic illness to ultra rare chronic illness and disease.
Megan Gilmour 44:24
I forget the exact term, but there’s something like a symptom of significance or a complication of significance, you said before about yourself. And there could be all of these, you know, other people captured in this that haven’t been diagnosed, or have something so rare that, yes, it’s just not hitting – the signals aren’t there, or the signals are there, but the knowledge isn’t there to pick it up.
Janna Linke 44:59
I would say the majority of that 10,000 probably are undiagnosed.
Megan Gilmour 45:04
Yes, so it’s a lot of people and we’ve touched on this, do kids with HCTDs currently miss a lot of school? And Holley, you’ve said, yes, they do.
Holley Jones 45:20
Oh, they do.
Holley Jones 45:23
Yes, I feel like they do just from my personal experience with my sons, they miss a lot of school for appointments. My sons, over the years, they’ve done occupational therapy, they’ve done physio, psychologists, speech therapy, all these things are sort of intertwined into each other. Cardiologists, geneticists
Janna Linke 45:46
Podiatrists
Megan Gilmour 45:52
Viral things, length of those, fatigue, I’m imagining, based on what you’ve said.
Holley Jones 45:56
I pick them up all the time. They miss out a lot of school events, school camp, there’s times where teachers don’t feel confident and they’re worried and they’re like, ‘What do we do if this happens?’. They miss a lot of school in general from their symptoms, but also appointments.
Megan Gilmour 46:23
And how much time would you kind of calculate that as? It’s intermittent, indefinite school absence. Isn’t it like it’s here or there? It’s a few hours here, it’s another few hours there. And this is going to be across the whole 13 years of school life, because it just is.
So, when you add all of that up, I mean chronic school absence, based on the kind of canonical 10% of school missed or more is considered chronic school absence, and that’s one day every two weeks.
So, if you added all of this time up over a school life, that’s chronic school absence.
Janna Linke 47:12
Yes, I would, put attendance down at around 80% at times.
Holley Jones 47:19
Ours is pretty low, and then with school refusal on top.
Megan Gilmour 47:25
Yes, unable to attend school due to high levels of stress, distress and anxiety.
Janna Linke 47:34
There’s also a lot of children in the community who do convert to doing hybrid models, flexible learning on a more permanent basis. There also is a considerable number of kids in the community who have gone to homeschooling because they just can’t maintain the regular routine, the long hours.
Megan Gilmour 47:56
Yes, and that’s a complication for families right there, particularly mothers. I’m just going to come out and say it based on our data.
Janna Linke 48:06
Yes, the economic burden the mental burden.
Megan Gilmour 48:11
The economics, the breaks, the not doing work outside of the home, not being able to do that. Some people on these calls report the increased cost of having chronic conditions in the home, for one or more people, as well as reduced income, and the care, the caring, the medical appointments –
Janna Linke 48:40
Yes, it’s not just the lost income, it’s all of the added, you know, especially for families that don’t have, you know, if the kids haven’t gained access to NDIS, which we know is becoming more difficult. It’s more nuanced, it’s not always there for children. So being able to afford supports is difficult. I mean, it’s prohibitive. A lot of people just can’t do it.
Megan Gilmour 49:05
Yes, and this is one of the things we’re trying to shine a light on, also for mothers. It’s not saying that fathers don’t care. It’s not saying that at all. But it is women that our data shows are putting in the carer’s duties and the school maintenance and those types of things.
So, I just wanted to come back to the missing school component, and just also say, for those who are listening, children living with HCTDs, are definitely covered by the Disability Standards for Education, which is a national regulation that every school in Australia must adhere to. The standards come from the Disability Discrimination Act, and it doesn’t matter whether it’s kinder, year 12, year eight at a Catholic school, a public school, an Independent School in Victoria in South Australia, in northern territory.
The standards apply to every school in Australia, and these children are absolutely covered by the standards, which means they are entitled to access to their classrooms and their school on an equal basis to others.
They’re entitled to access the national curriculum, to learn alongside peers, to receive individual learning plans and adjustments to enable them to be participating on equal terms to others and having the learning opportunities, and that means additional support, that support is funded by the federal government through to schools, directly through disability levies, on top of the enrollment that children receive from their state or territory or school system or the Commonwealth funds that go to schools for that purpose.
And it also enables connective technology, or technology or other technologies, assistive devices, to enable all of that on equal terms to others.
So, I put that there, because that’s not something that everybody knows. And the way that disability can be defined by the NDIS, for example, or the general population, the standards are really specific illness, disease of the body, and, of course, other disabilities, developmental disabilities and all sorts of things.
So, this is a really big key to the kinds of things Holley has been saying about advocating for young people in these circumstances, because the Disability Standards, it’s the language of schools. You say it, the school knows what it is.
You make that connection, the school is obligated to provide the things that I said, and the school can also get funding from these levies and their own systems too, to be able to make these accommodations and these individual learning plans come to life.
And we talked about things, this is not just about math, science and English, it’s about all subjects, and also about the participation in school as well, for example, the arts and sports and excursions and other things, to be able to make adjustments so that a young person isn’t simply left out because it’s too hard.
So, I always give the DSE a big plug, because it’s a great connection to make, and can really, you know, can involve the allied health services as well that you’ve mentioned.
Janna Linke 53:17
Does it require a diagnosis?
Megan Gilmour 53:22
No, it can be applied through imputation, and that imputation means where there are clear symptoms, even without a diagnosis, that the standards apply. So, I mean, you can look that up, you can read it, you can interrogate it, because it’s really clear.
And the amazing thing for me, doing my policy paper in 2020, was I was looking at, we need specific legislation for these kids, and then I found, well, ‘oh, the standards says everything – it was written in 2005 and has had sort of updates and things, but everything is there already’, including to provide two way digital connection to a classroom for a child who can’t physically access the school.
And I think this is a game changer, because Holley, the work that MissingSchool’s been trying to do, have been doing, we have been doing it, but is to one day see every school as a hybrid, flexible school situation for children for whom…
Janna Linke 54:38
Wouldn’t that be amazing
Megan Gilmour 54:39
For whom the current model doesn’t work through no fault of the child’s. So to be able to – if fatigue was there and home rest was needed, to be able to then dial in for part of the day take your lessons alongside peers, for as long as you can, for as much as you can, or are able to, and that’s what we have kids doing.
So, you know, the schools that have done that have been incredible. Some of the things that teachers have done and accommodated, and just like you said, the kids in the classroom are like, ‘Oh, they’re here through a screen, or they’re here physically’. And it doesn’t really make much difference to them.
It has a very positive effect on peers as well in terms of compassion and empathy and understanding. So, it’s something I always like to mention on these calls to just bring that into the frame for people as well.
Janna Linke 55:46
Yes, definitely, it’s still providing that connection, isn’t it.
Megan Gilmour 55:50
It’s also about socialisation. School’s about rites of passage as well and being able to be part of community.
Janna Linke 55:59
Yes, 100%
Megan Gilmour 56:02
Yes. And kids just want to be normal, want to fit in and do what kids do, play, be with other kids, not with adults, and when they can obviously, be able to move around and get up to hijinks, as long as it’s safe, we should all support that. As long as it’s safe.
So just rounding that out, we’d love to hear from you a few dot points about what the critical times in school life for these kids are, and what should families and schools be prepared for?
Janna Linke 56:49
So, I, thinking about that question. I think all it’s all critical. There’s no point we can say is less important. You know, a time period that is less important than another. The early years are foundational for that early consolidation of reading and writing and learning, but also socialisation. But you know, then later teens are also really important for all the same reasons.
So, for me, I think it’s all important the critical points, and we need to maintain that connection throughout, like you say, with a hybrid, flexible model, if we have to, or because it is, there’s no point where we can say, ‘Oh, it’s okay. They can miss two months in year two, it’s only year two’. It’s not true. They need to be connected at each and every stage, yes, in a way that works,
Megan Gilmour 57:47
Hear, hear. There’ll never be an argument from me on that point. And what I come to learn over the years in my narratives about this was, sure we’re doing this for them, but if these kids aren’t in our school communities, what are we missing out on from them, that they bring that they’re not able to bring. What? What are we as a community missing from them, not to make the assumption that they just need help.
Janna Linke 58:23
Yes, definitely, yes.
Megan Gilmour 58:26
Do you have some words to add to those?
Holley Jones 58:29
Yes, I agree. I think the missing chunks of school puts them so behind the amount of learning they miss, even for two weeks off school, they’re behind. They’re trying to catch up. And for children who have learning difficulties, it’s extra hard to try and keep up.
So, I feel like, yes, we need to be making sure that there are other options for their learning. And as Janna was saying, it’s all critical. Every year of schooling is important, early years, later on, it’s all equally as important.
Megan Gilmour 59:11
And do you notice that your children experience anxiety about falling behind or having the sense of having to catch up. Or do they just say, oh, in the end, it’s just too much to even contemplate.
Holley Jones 59:29
Yes, they both experience a lot of anxiety around school. My youngest in particular, because he’s also dyslexic, and he is quite behind in his learning, so he already has a lot of school refusal because he knows he struggles at school, and he knows he sees other children doing their learning, and his is adaptive, which is great, but he knows that he’s not up to their level.
And then he misses school because he’s pulled a joint muscle, in his groin last week, so then he’s off school, and then he’s going back and he’s missed an excursion. He’s missed writing about that excursion, and now they’re learning about olden day times, and he’s got no idea why.
So, yes, I’ve got one son who experiences a lot of anxiety around ‘I’m behind now’, and then my other son, he kind of just goes whatever. I’ll just do whatever I need to do on the day.
Megan Gilmour 1:00:28
Coping mechanisms. And it’s their potential sitting there too, isn’t it, that they may not be able to mobilise and express or experience because they’re just running to keep up.
Holley Jones 1:00:47
Yes
Janna Linke 1:00:50
Yes
Megan Gilmour 1:00:51
Did you want to add anything to that Janna?
Janna Linke 1:00:53
- I mean, the only thing I want to add is that I know, and it’s probably not quite this question, but it’s around like attendance awards. Some schools have attendance awards, and I feel like they are so not inclusive for kids that just aren’t making 100% attendance because they physically can’t.
Holley Jones 1:01:17
So much pressure, and you shouldn’t lose your place at a school either, just because you can’t attend. I know some schools, some private schools, are really strict, if you don’t attend, see you later.
Megan Gilmour 1:01:28
Well, there’s all sorts of rankings that get given, again, this is sort of some perverse incentivisation, right? For a child who actually cannot control that. And we’re talking about specific cases.
There are so many chronic, rare and complex health conditions that keep kids physically out of school alone, then let’s add the mental health ones, then let’s add transport, and then let’s add young carers. And then let’s add, you know, rural or remote, or a complex family situation.
And yes, as you say, because there’s such a push for attendance now, it’s trying to incentivise that in a positive way. But for those who actually cannot ever win that award,
Janna Linke 1:02:21
Yes, it just adds to their guilt of, ‘oh, I didn’t, or I’m not going to get that award’
Megan Gilmour 1:02:27
And I remember when my son, who had a – and that’s why MissingSchool exists, a very, very complex condition that he is cured of now, but two years of medical isolation and a bone marrow transplant and all of the things, he’s really a walking miracle, an N equals one.
I remember when he went back to school and all the awards were given out, and all the kids were getting awards for this and that, and he had done hospital school every day in the hospital, through the most debilitating circumstances and physical duress, and he was overlooked for that.
I felt that – I felt that! I was like this kid has tried to do school through all of this, but nobody sees it.
Janna Linke 1:03:26
There’s no recognition.
Megan Gilmour 1:03:28
There’s no recognition. And I say this because the kids we’re talking about and what they go through like that’s an award on its own. Let’s face it,
Janna Linke 1:03:40
Yes, because there are so many days where they go to school with pain, and they get through it and it’s invisible, and, you know, there’s perseverance,
Holley Jones 1:03:50
They just show up, deal with it, yes, if you looked at them, you wouldn’t know there’s anything wrong with them. It’s the same as my husband. He’s the same. You look at him, and you wouldn’t know he has leukaemia. You wouldn’t know he has vEDS. You would not know he’s deaf! You wouldn’t know any of those things.
Megan Gilmour 1:04:05
They’re not having a choice in that, right? So, if you’re going to participate in life, you’re taking that with you, and I guess, sadly, become used to it as well.
Megan Gilmour 1:04:18
It’s, I think, what gets awarded. And I’d really like to flag this for the team in this part of the conversation is, you know, this is something we also need to be having a conversation about is how these awards and meritorious moments are, you know, what they’re focused on and what people are actually living out there.
I think this productivity is a little bit the same sort of, the harder you work and the faster and the more you do and more output you have, it’s, know, congratulations. But there’s so many other things out there that should become part of the conversation and be understood. I think that invisibility, again, is showing up in what we’re talking about.
So, as we come to the end of our conversation on school and rounding up on the end of our conversation in full, we’ve talked about the biggest challenges and the vulnerabilities, and I’m sure there are more that we can only imagine.
What’s happening now in schools around this and is it good enough? And if it’s not, what do you think schools need to know and do? What do we need to do differently, not just in one school –
Janna Linke 1:05:53
I think there needs to be more education for educators around complex chronic illnesses as a whole. You know, obviously making it disease or condition specific is an impossible task.
But understand, you know, giving a greater understanding of fatigue and pain, those common occurrences that are common to a lot of complex chronic illnesses, those symptoms that occur in other conditions.
Having an understanding of that so that you can better adapt and better understand a child in your care’s position and how they’re feeling and how they’re moving through the day and offering more rest breaks.
But again, it should go beyond just the kids necessarily that have the complex chronic illnesses, too. If a child needs a rest break, maybe all children should have the opportunity to have a rest break. Yes, so I think more education is definitely needed.
Specific to HCTDs, I think we need more resources for schools to be able to educate them as well when they have a child with a known HCT obviously, not all schools, but education tools for when there is a child known to have one of these conditions.
And that’s something that CTDNA would like to work towards, being able to develop those resources, but obviously, as a very small volunteer, lived experience run organisation, everything is slow going, despite a lot of determination and sheer grit, it’s still slow going.
But it’s something that’s coming up again and again in a lot of conversations that some more targeted resources, especially for the rarer types for education settings, is needed.
Megan Gilmour 1:07:54
Thanks, Janna. And Holley?
Holley Jones 1:07:56
Well, for example, when my son started school, they asked for a medical plan. There was no medical plan at the GP for chronic illness or connective tissue. So, we had to make one.
We had to physically make one with the school, which gives them a rundown on what to do if the boys have a medical episode because there wasn’t one. Whereas asthma, diabetes, epilepsy, they have one because they’re well known, whereas a rare connective tissue disorder doesn’t.
I feel like maybe schools, same as Janna was saying, they need more education on what they are, how to support children, but also simple things like a medical plan shouldn’t that be something that, overall, they have access to?
Megan Gilmour 1:08:50
And the medical plan, the health plan, the safety plan, goes along with the Individual Learning Plan. And there’re such good points, and you know, we have Janna saying there the big picture, and then Holley backing it up with some really explicit, specific example of how this shows up when, when that consistency is not in place.
And I’m happy to say that that’s exactly what MissingSchool is doing with these Live & Learns. We’re up to 43 now, number 43 and it’s to try and take all of that golden thread through all of them, because I can tell you, there’s so many commonalities, different disease groups, different specifics on the medical side, the mental health side, but the family lived experience and the experience with school so much the same.
So, we’re hoping to be able to bring that evidence forward for a nationally consistent approach in schools to chronic conditions, complex conditions, also to make it easier for educators, right?
Janna Linke 1:10:11
Yes
Megan Gilmour 1:10:13
There’re multiple kids walking into that classroom every day with multiple conditions. And teachers, we would hope to be able to get to a place where, here is the information, here is the standard of what you do for kids with complex chronic conditions.
Here are the specific things you need to know for the HCTD, and we don’t want you to become a medical expert, we just want you to know this so that you can keep them safe, or make sure they’re safe, and teach them, and they can learn and be part of the class.
So, on wrapping up, is there anything you’ve missed or that you would like to say, or is impressing upon you to say now about HCTDs? And yes, let us know, tell us.
Janna Linke 1:11:17
Yes. I mean, I think we’ve covered an awful lot, and it’s such a big topic, and there’s a lot of nuance to it, because each child’s experience, you know, whilst they’re similar, they’re still different.
But I think the main thing is just more support, more awareness, more education, earlier diagnosis for kids, so that the early interventions are available. Everything that we’ve spoken about.
Megan Gilmour 1:11:46
Is that your call to action?
Janna Linke 1:11:49
No, sorry, my call to action is support awareness, believe families and improve care early.
Megan Gilmour 1:11:57
Brilliant, thank you and Holley, have you missed anything you want to say, any burning point you want to put in here?
Holley Jones 1:12:06
Oh, there’s so many things I could add, but then I’d be talking forever. I think about missing school, and then I think about children who have these in connective tissue disorders, and then I think about their parents that have them, and then the missed school that comes from having a parent who’s got them. Yes, my children miss school because their parent’s unwell, or they have appointments.
There’s just so many more things I could say, but it comes down to be aware, yes, educating educators and medical professionals and advocating for yourself. Don’t give up. You think something’s not right, keep pushing.
Janna Linke 1:12:44
Yes. Keep pushing, yes.
Megan Gilmour 1:12:46
Is that your seven plus words? Your call to action? Because it was absolutely brilliant.
Holley Jones 1:12:50
Yes.
Megan Gilmour 1:12:54
I love it. So Janna and Holley, thank you so much for sharing so generously, your knowledge, your experience, your ideas and your wishes, and just from our heart to yours, our greatest thanks for the work that you do and in your families as well as in the community, and to share that with us has been really extraordinary and special.
So, I want to shout out to both of you, but also to CTDN Australia, you can find them at CTDNA.org.au [https://www.ctdna.org.au]. Go there, do whatever they ask you to do. Give, help, volunteer, get resources, share the information.
Yes, big, big shout out for this organisation and the work that they’re doing to help so many people not have a very lonely journey, or a journey where they don’t know what’s actually going on, or to get that diagnosis that is so important as early as possible.
Thank you so much for joining me today on Live & Learn, Janna and Holley,
Janna Linke 1:14:04
Thank you for having us and all of your work also.
Megan Gilmour 1:14:06
Thank you so much. It’s our great pleasure.
Thanks everyone for tuning in. Help us turn up the volume so all kids are seen and heard. Follow along, LIKE, SHARE COMMENT or leave us a review, because we love hearing from you, and if you want to donate, head to missing school.org.au, because every dollar makes a difference.
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